PubMed:17549393 / 0-65
Annnotations
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"4119","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"4120","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"attributes":[{"id":"A1","pred":"db_id","subj":"4119","obj":"NCBIGene:3664"},{"id":"A2","pred":"db_id","subj":"4120","obj":"p|SUB|Y|67|X"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
LitCoin-SeqVar
{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":2,"end":7},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":22,"end":30},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":38,"end":42},"obj":"GeneOrGeneProduct"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":2,"end":7},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
LitCoin-GeneOrGeneProduct-v3
{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T92598","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T61975","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":8,"end":12},"obj":"gene:3664"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17549393-0#8#12#gene3664","span":{"begin":8,"end":12},"obj":"gene3664"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
tmVarCorpus
{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":32,"end":36},"obj":"ProteinMutation:p|SUB|Y|67|X"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-deepseek-nr-ng
{"project":"biored-valid-deepseek-nr-ng","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid
{"project":"biored-valid","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-deepseek-nr-g
{"project":"biored-valid-deepseek-nr-g","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":13,"end":37},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-deepseek-r-ng
{"project":"biored-valid-deepseek-r-ng","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-deepseek-r-g
{"project":"biored-valid-deepseek-r-g","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gemini-nr-ng
{"project":"biored-valid-gemini-nr-ng","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":43,"end":49},"obj":"OrganismTaxon"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gemini-r-g
{"project":"biored-valid-gemini-r-g","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":13,"end":30},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gemini-r-ng
{"project":"biored-valid-gemini-r-ng","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":43,"end":49},"obj":"OrganismTaxon"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gpt-nr-ng
{"project":"biored-valid-gpt-nr-ng","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gpt-r-ng
{"project":"biored-valid-gpt-r-ng","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":13,"end":30},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gpt-r-g
{"project":"biored-valid-gpt-r-g","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gpt-nr-g
{"project":"biored-valid-gpt-nr-g","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":31,"end":37},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gemini-nr-g
{"project":"biored-valid-gemini-nr-g","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":13,"end":30},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gpt-r-m
{"project":"biored-valid-gpt-r-m","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-gemini-r-m
{"project":"biored-valid-gemini-r-m","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":13,"end":30},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}
biored-valid-deepseek-r-m
{"project":"biored-valid-deepseek-r-m","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van"}